title: CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.
abstract: We describe five Chinese individuals carrying a codon 30 (-GAG) (α2) (HBA2: c.91_93del) mutation, including three heterozygotes and two patients with Hb H (β4) disease. The heterozygotes presented hematological parameters of microcytosis and hypochromia. The Hb H disease patients were transfusion-independent and had survived to adulthood. Screening for this nondeletional allele, and correlation of genotype with phenotype in Hb H disease is important for genetic counseling.
authors.affiliation: Department of Obstetrics and Gynecology, Guangzhou Women and Children Medical Center , Guangzhou, Guangdong , People's Republic of China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yang
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D006447:Hemoglobin H / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics* / Q000378:metabolism; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism
chemical_list: D003062:Codon; D055542:alpha-Globins; D006447:Hemoglobin H